MUTATIONS IN TRANSCRIPT ISOFORMS OF THE NEUROFIBROMATOSIS-2 GENE IN MULTIPLE HUMAN TUMOR TYPES
MUTATIONS IN TRANSCRIPT ISOFORMS OF THE NEUROFIBROMATOSIS-2 GENE IN MULTIPLE HUMAN TUMOR TYPES
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DOI：
10.1038/ng0294-185
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发表时间：
1994-02-01
期刊：
影响因子：
30.8
通讯作者：
KLEY, N
中科院分区：
文献类型：
--
作者：
BIANCHI, AB;HARA, T;KLEY, N
最近分离出神经纤维瘤病 2 基因 (NF2)，并预测其编码与细胞骨架相关蛋白的 moesin-ezrin-radixin 家族相关的新型蛋白。在这里，我们描述了 NF2 转录本的一种新亚型，它显示出差异组织表达并编码预测蛋白质的修饰 C 末端。在包括黑色素瘤和乳腺癌在内的多种肿瘤类型中检测到了影响 NF2 转录本两种亚型的突变。这些发现提供的证据表明，NF2转录物的改变不仅发生在通常与NF2相关的遗传性脑肿瘤中，而且还作为体细胞突变发生在其散发的对应物和看似不相关的肿瘤类型中。因此，NF2基因可能构成在肿瘤发生中具有更普遍重要性的肿瘤抑制基因。
The neurofibromatosis 2 gene (NF2) has recently been isolated and predicted to encode a novel protein related to the moesin-ezrin-radixin family of cytoskeleton-associated proteins. Here we describe a novel isoform of the NF2 transcript that shows differential tissue expression and encodes a modified C terminus of the predicted protein. Mutations affecting both isoforms of the NF2 transcript were detected in multiple tumour types including melanoma and breast carcinoma. These findings provide evidence that alterations in the NF2 transcript occur not only in the hereditary brain neoplasms typically associated with NF2, but also as somatic mutations in their sporadic counterparts and in seemingly unrelated tumour types. The NF2 gene may thus constitute a tumour suppressor gene of more general importance in tumorigenesis.